ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu)

gnomAD frequency: 0.00001  dbSNP: rs1251348764
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691589 SCV000819375 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-09-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 570677). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 516 of the SDHA protein (p.Gln516Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SDHA protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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